HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514614.1:p.[Ser341_Pro349delinsProValThrAspProValThrLeuArg;Asp351Glu;Ala353_Ser359delinsArgTrpArgArgThrArg;His361_Glu369delinsThrAlaAlaLeuProTrpIleLeuArg;Phe371del] |
CA658655977
ENST00000699811.1:c.1020_1023del
|